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Wednesday, April 15, 2015

Getting More From Your Autosomal DNA: Genetic Family Trees

For years, genealogists have been able to use Y-DNA to validate paternal pedigrees and sort surnames into family groups. This has been a great advantage for the world of genealogy, but it has been restricted to men and paternal lines. Autosomal DNA is more inclusive. Both women and men can take this test and it illuminates the entire family tree as opposed to just the male line. For those of us that have taken an autosomal test, there are a number of tools that help find cousin matches. When we find multiple cousins matching the same chunk of DNA, we reach out to our new cousins and attempt to find a common ancestor in our trees. Many times this is unsuccessful due to incomplete trees. This is what is called a bottom-up approach.

What if we used a top-down approach? What if we started with your 10th great-grandmother? You’d say autosomal DNA can’t go back that far. That’s 12 generations ago and the DNA would be diluted to less than 1% of the original amount. If autosomal DNA behaved mathematically, you’d be correct. Autosomal DNA behaves more like Legos. When we inherit DNA from our parents, it’s true that we get 50% from mom and 50% from dad. That’s where the fairness ends. When we look at what we inherit from our grandparents (through our parents), it is never 50/50.

Instead, what we get from our grandparents is a random split. In the case of the illustration above, this grandchild received a 54/46 split. This is not uncommon. See this Slate article.

Our chromosomes behave like building blocks. There is a tendency for genes located closely on a chromosome to be inherited together in a block. This is called gene linkage. There is no set size for these blocks; size is completely based on the genes that tend to stay together. Segments around the 2 cM (centiMorgan) size have been found consistently (American Journal of Human Genetics). The DNA we get from our grandparents come to us in large contiguous sections of hundreds of these blocks. From generation to generation, the large sections are inherited randomly and unfairly, but the building blocks have a tendency to stay intact and not recombine. With each generation, there is 50% chance of inheriting or not inheriting a specific block.

It’s possible that these 2 cM building blocks are about 25 generations old. So, when we start with our 10th great-grandparents, they have lots of these blocks that they inherited from their parents and gave to their children. What we can expect is that their descendants will have an assortment of these blocks from them and other ancestors. When we examine the autosomal DNA for two dozen of their descendants, we find a set of genetic blocks in common. No one descendant will have all the available genetic blocks an ancestor has left in the gene pool. We may find five descendants sharing a block on chromosome one and seven descendants sharing a block on chromosome 12. With DNA samples from two dozen descendants, about 15 ancestral genetic blocks can be identified. All of the ancestral genetic blocks taken together uniquely identify your 10th great-grandparents as a couple. Only their descendants would have this genetic block combination. (Except in the situation where one set of siblings marries another set of sibling from a different family.)

When we take the process a step further and analyze the next generation, we start to build a genetic family tree.

The table above shows the genetic blocks identified for Stephen Hopkins and each of his children that had descendants. For simplicity, only one individual is listed for each column. Remember that each column of genetic blocks actually represents a married couple: Constance Hopkins and Nicholas Snow, Deborah Hopkins and Andrew Ring, etc. Each genetic block has a chromosome number and start and end locations. Blocks in green represent inherited blocks from Stephen to his children. As we build a genetic family tree, it now becomes possible to take a DNA sample from a living individual and match with Stephen Hopkins. Once a match with Stephen is found, matches to his children can be checked to see which child the sample descends from. Generations can be added to the genetic tree until known descendant DNA data has been exhausted. In the Hopkins family, I was able to extend Constance’s line by a generation to Mary Snow and then then to Mary’s daughter, Mary Paine, before the data ran out.

Similar to Y-DNA, these sets of genetic blocks (autosomal haplotype) can be used to identify genealogical relationships and sometimes the lack of relationships. John Hopkins of Connecticut has often been connected as a son of Stephen Hopkins. When we generate the autosomal haplotype for John and compare it to Stephen, we can see that there is no relation across the board.

The red blocks indicate John’s DNA segments that have no corresponding segments with Stephen. The yellow blocks indicate a similar chromosome location, but no genetic match. Y-DNA gives us the ability to use DNA to see how brothers are potentially connected. Now autosomal DNA gives us the ability to see how brothers and sisters are potentially connected.

The autosomal haplotyping process is not a silver bullet that will solve all of our genealogy problems. It will add to our toolkit as we validate family trees, work through brick-walls and attempt to solve genealogy mysteries.

Reference:

Maglio, MR (2015) Autosomal Haplotypes and the Genetic Reconstruction of Family Trees (Link)